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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Roberts syndrome
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Accession:DOID:5325 term browser browse the term
Definition:A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1. (DO)
Comment:GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome, not a distinct disease (DO)
Synonyms:exact_synonym: Appelt-Gerken-Lenz syndrome;   Long bone deficiencies associated with cleft lip-palate;   Pseudothalidomide Syndrome;   RBS;   Roberts-Sc Phocomelia Syndrome;   SC phocomelia syndrome;   SC pseudothalidomide syndrome;   SC syndrome;   hypomelia hypotrichosis facial hemangioma syndrome;   tetraphocomelia-cleft palate syndrome
 primary_id: MESH:C535687
 alt_id: DOID:0050536;   OMIM:268300;   OMIM:269000
 xref: GARD:7387;   NCI:C126326;   NCI:C4681;   ORDO:3103
For additional species annotation, visit the Alliance of Genome Resources.


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Roberts syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by OMIM:269000
ClinVar Annotator: match by OMIM:268300
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
OMIM
ClinVar
CTD
PMID:495649, PMID:1642282, PMID:3740099, PMID:15821733, PMID:16380922, PMID:18186147, PMID:18411254, PMID:18414213, PMID:19574259, PMID:20101700, PMID:20301332, PMID:24098154, PMID:24864645, PMID:25741868, PMID:28492532, PMID:31192177, PMID:15821733, PMID:18186147 RGD:11535977, RGD:11535978 NCBI chr15:42,500,929...42,519,019
Ensembl chr15:42,500,929...42,518,855
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Roberts syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Roberts syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.